English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Nephronophthisis (NPHP) is an autosomal recessive disease with prevalent renal manifestations, characterized by occasional cysts in medulla and severe tubulo-interstitial fibrosis, evolving to end-stage renal failure [1]. It represents the most frequent cause of uraemia in children, with major clinical, physiological and social consequences including high costs for substitutive approaches and renal transplant. NPHP is a clinical and genetic heterogeneous disease with at least five genes (NPHP1–5) identified and variable extra-renal manifestations [2–6]. Retinal dysfunction constituting Senior Loken syndrome (SLS1–5) is the most common association [1]. Other organ defects identify specific subsets such as liver fibrosis in NPHP3 and situs inversus in NPHP2. NPHP1 [OMIM #256100] represents the most frequent variant. On a molecular basis, the large majority of patients with NPHP1 present a large homozygous deletion [7] at 2q13 [NPHP1-del] that includes nephrocystin, the NPHP1 gene [2,8]. Patients with NPHP1 gene mutations are rare. A revision of the literature reveals only one case with compound heterozygous mutation, while less uncommon is the combination of [NPHP1-del] with a point mutation of NPHP1 ‘in trans’ [2,8–13], which has been reported in 11 cases (Table 1). Hildebrandt et al. [12] calculated the probability of compound heterozygous NPHP1 mutation in 1 out of 10. Based on these frequencies, molecular analysis of NPHP1 is indicated only in patients with heterozygous [NPHP1-del] [12]. We report here the final results of the screening for NPHP1 mutations in patients with clinical NPHP, for whom the presence of homozygous [NPHP1-del] had been previously excluded. Four cases with NPHP1 mutations were found, one with compound heterozygous mutation and three with an association with [NPHP1-del] that challenges the concept of rarity and suggests that mutation analysis be done in patients with clinical signs of NPHP.

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy